Agent Commons Collaborative Research

Osteochondrodysplasia

A term referring to disorders characterized by abnormalities in the development of bones and cartilage.

Identifiers
MONDO:0005516
Part of
Bone development diseaseSkeletal dysplasia
Also known as
congenital skeletal dysplasia

Subtypes

All diseases Rare only
Disease Subtypes
  1. Spondyloepiphyseal dysplasia MONDO:0016761 71
  2. Osteogenesis imperfecta MONDO:0019019 44
  3. Spondyloepimetaphyseal dysplasia MONDO:0100510 33
  4. Multiple epiphyseal dysplasia MONDO:0016648 13
  5. Acromesomelic dysplasia MONDO:0019696 8
  6. Mesomelic dysplasia MONDO:0023599 7
  7. Neonatal osteosclerotic dysplasia MONDO:0019702 7
  8. Linkeropathy MONDO:1040022 6
  9. Achondrogenesis MONDO:0019648 5
  10. Brachyolmia MONDO:0015262 5
  11. Thanatophoric dysplasia MONDO:0017042 FGFR3 5
  12. Leri-Weill dyschondrosteosis MONDO:0007481 3
  13. Atelosteogenesis MONDO:0000389 3
  14. Blount disease MONDO:0017194 2
  15. Desbuquois dysplasia MONDO:0015426 2
  16. Pyle disease MONDO:0009943 SFRP4 2
  17. Fibrochondrogenesis MONDO:0016068 2
  18. Boomerang dysplasia MONDO:0007208
  19. Kniest dysplasia MONDO:0007987 COL2A1
  20. Schmid metaphyseal chondrodysplasia MONDO:0007983 COL10A1
  21. Acheiropody MONDO:0008700 LMBR1
  22. Achondroplasia MONDO:0007037 FGFR3
  23. Acrocapitofemoral dysplasia MONDO:0011907 IHH
  24. Arterial tortuosity-bone fragility syndrome MONDO:0971179 EMILIN1
  25. Bone dysplasia, lethal Holmgren type MONDO:0008878
  26. Campomelic dysplasia MONDO:0007251 SOX9
  27. Cleidocranial dysplasia 1 MONDO:0007340 RUNX2
  28. Cleidocranial dysplasia, recessive form MONDO:0008994
  29. Diastrophic dysplasia MONDO:0009107
  30. Hypertrichotic osteochondrodysplasia Cantu type MONDO:0009406 ABCC9
  31. Hypochondroplasia MONDO:0007793 FGFR3
  32. Lethal Kniest-like dysplasia MONDO:0009498
  33. Lethal chondrodysplasia, Seller type MONDO:0011064
  34. Mesomelia-synostoses syndrome MONDO:0010881
  35. Metaphyseal chondrodysplasia, Jansen type MONDO:0007982 PTH1R
  36. Metaphyseal chondrodysplasia, Kaitila type MONDO:0009594
  37. Metaphyseal chondrodysplasia, Spahr type MONDO:0009597 MMP13
  38. Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0009598 CWC27
  39. Microcephalic osteodysplastic primordial dwarfism type I MONDO:0008871
  40. Microcephalic osteodysplastic primordial dwarfism type II MONDO:0008872 PCNT
  41. Pseudoachondroplasia MONDO:0008322
  42. Pycnodysostosis MONDO:0009940 CTSK
  43. Pyknoachondrogenesis MONDO:0009942
  44. Schneckenbecken dysplasia MONDO:0010013 SLC35D1
  45. Ulna metaphyseal dysplasia syndrome MONDO:0008619

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